RGD DISEASE ONTOLOGY - ANNOTATIONS
RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term: Fetal Diseases
Accession: DOID:9001984
browse the term
Definition: Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES.
Synonyms: exact_synonym: Embryopathies; Embryopathy; Fetal Disease
primary_id: MESH:D005315
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Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:10195895 PMID:10195896 PMID:10346820 PMID:20961246
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
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Nos2
nitric oxide synthase 2
ISO
associated with Diabetes Mellitus, Experimental
RGD
PMID:19283362
RGD:2313217
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Prkcb
protein kinase C, beta
IEP
associated with Diabetes Mellitus, Experimental;protein:increased expression
RGD
PMID:15496608
RGD:1625524
NCBI chr 1:176,832,173...177,163,539
Ensembl chr 1:176,832,226...177,163,536
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Prss8
serine protease 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22705055
NCBI chr 1:182,536,229...182,540,745
Ensembl chr 1:182,536,229...182,540,815
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Emg1
EMG1 N1-specific pseudouridine methyltransferase
ISO ISS
OMIM:211180 CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Bowen-Conradi syndrome
OMIM MouseDO CTD ClinVar
PMID:19463982 PMID:25741868 PMID:28492532
NCBI chr 4:157,509,258...157,517,540
Ensembl chr 4:157,509,277...157,517,540
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Ephb4
EPH receptor B4
ISO
ClinVar Annotator: match by term: EPHB4-associated vascular malformation spectrum | ClinVar Annotator: match by term: Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to | ClinVar Annotator: match by term: Lymphatic malformation 7
OMIM ClinVar
PMID:25741868 PMID:27400125 PMID:28492532 PMID:28687708 PMID:29444212 PMID:29905864 PMID:30578106 PMID:30760892 PMID:32267001 PMID:33240318 More...
NCBI chr12:19,326,411...19,351,667
Ensembl chr12:19,326,427...19,351,314
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Mdfic
MyoD family inhibitor domain containing
ISS ISO
OMIM:617300 ClinVar Annotator: match by term: CENTRAL CONDUCTING LYMPHATIC ANOMALY
MouseDO ClinVar
PMID:25741868 PMID:35235341
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Slc12a9
solute carrier family 12, member 9
ISO
ClinVar Annotator: match by term: Lymphatic malformation 7
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:19,368,990...19,385,881
Ensembl chr12:19,369,004...19,385,877
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Ager
advanced glycosylation end product-specific receptor
ISO
RGD
PMID:22578261
RGD:6767308
NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078
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Fas
Fas cell surface death receptor
ISO
protein:increased expression:villous trophoblast
RGD
PMID:12700199
RGD:12904022
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Il1a
interleukin 1 alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21493953
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Il6
interleukin 6
ISO
protein:increased expression:plasma protein:increased expression: cervicovaginal fluid : associated with Premature Birth;protein:increased expression:tracheal aspirate fluid:
RGD
PMID:15547537 PMID:25687566 PMID:25011638
RGD:5128667 , RGD:12792243 , RGD:12791291
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Lta
lymphotoxin alpha
severity
ISO
associated with Premature Birth;DNA:SNP:promoter:250G>A (human)
RGD
PMID:15128916
RGD:12904055
NCBI chr20:3,618,853...3,621,324
Ensembl chr20:3,618,853...3,620,859
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Mbl2
mannose binding lectin 2
susceptibility
ISO
DNA:polymorphism:exon:p.G54D(human)
RGD
PMID:15723707
RGD:12910932
NCBI chr 1:228,016,439...228,024,736
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Mmp9
matrix metallopeptidase 9
severity
ISO
protein:increased expression:respiratory system fluid/secretion
RGD
PMID:12712078
RGD:13204828
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
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Tgfb1
transforming growth factor, beta 1
severity
ISO
protein:increased expression:amniotic fluid
RGD
PMID:19332995
RGD:4145137
NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
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Tnf
tumor necrosis factor
no_association severity
ISO
associated with Premature Birth;DNA:SNP:promoter:c.-308 G>A (human) associated with Premature Birth;DNA:SNP:promoter:c.-238G>A (human)
RGD
PMID:15128916 PMID:15128916
RGD:12904055 , RGD:12904055
NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
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Trem1
triggering receptor expressed on myeloid cells 1
ISO
associated with Premature Obstetric Labor;protein:increased expression:amniotic fluid:
RGD
PMID:19591072
RGD:127229904
NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203
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Rnf135
ring finger protein 135
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Chromosome 17q11.2 deletion syndrome, 1.4Mb | ClinVar Annotator: match by term: Macrocephaly, macrosomia, facial dysmorphism syndrome
CTD ClinVar
PMID:17632510 PMID:21681106 PMID:25741868 PMID:27535533 PMID:28135719 PMID:30665703 PMID:30763456 More...
NCBI chr10:65,170,560...65,189,791
Ensembl chr10:65,170,560...65,262,804
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Kcnn4
potassium calcium-activated channel subfamily N member 4
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
ClinVar
PMID:25741868
NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 PMID:21944700 PMID:22529292 PMID:23479567 PMID:23487776 PMID:23581886 PMID:23695678 PMID:23973043 PMID:24033266 PMID:24314002 PMID:25741868 PMID:28492532 PMID:28518170 PMID:28716860 PMID:28971506 PMID:29449963 PMID:29952828 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Fadd
Fas associated via death domain
ISO
RGD
PMID:26419589
RGD:13792560
NCBI chr 1:199,743,200...199,745,746
Ensembl chr 1:199,739,994...199,745,653
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Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence
ClinVar
PMID:25741868 PMID:33060286
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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Dok7
docking protein 7
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:2261499 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:25033858 PMID:25237101 PMID:25326637 PMID:25557462 PMID:25741868 PMID:26467025 PMID:26583494 PMID:27391121 PMID:28492532 PMID:29054425 PMID:31880392 More...
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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Musk
muscle associated receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:9536098 PMID:15496425 PMID:17576681 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30429133 More...
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
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Prg4
proteoglycan 4
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:2245297 PMID:12651869 PMID:15145336 PMID:15282317 PMID:19620612 PMID:22326364 PMID:25741868 PMID:28492532 More...
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26332594 PMID:27452334 PMID:28492532 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Vps13d
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Pena Shokeir syndrome, type 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Acp2
acid phosphatase 2, lysosomal
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,175,022...77,185,180
Ensembl chr 3:77,175,895...77,185,680
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Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA | ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:19562689 PMID:25741868 PMID:28492532 PMID:31680123 PMID:33060286
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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Add1
adducin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182
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Adss1
adenylosuccinate synthase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:26506222 PMID:28492532 PMID:31680123
NCBI chr 6:131,679,795...131,702,012
Ensembl chr 6:131,679,701...131,701,998
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Aldh5a1
aldehyde dehydrogenase 5 family, member A1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr17:40,132,339...40,158,677
Ensembl chr17:40,130,883...40,158,677
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Arfgap2
ARF GTPase activating protein 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,236,305...77,248,445
Ensembl chr 3:77,236,322...77,248,455
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Asah1
N-acylsphingosine amidohydrolase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:29140481 PMID:31680123
NCBI chr16:50,966,404...50,997,827
Ensembl chr16:50,966,229...51,008,233
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Ascc1
activating signal cointegrator 1 complex subunit 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:8677029 PMID:25741868 PMID:28749478 PMID:31680123
NCBI chr20:27,941,053...28,031,272
Ensembl chr20:27,941,283...28,031,272
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Aspm
assembly factor for spindle microtubules
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr13:51,074,849...51,123,755
Ensembl chr13:51,074,849...51,123,755
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Atp2b3
ATPase plasma membrane Ca2+ transporting 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr X:151,216,483...151,289,069
Ensembl chr X:151,216,507...151,286,775
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Aven
apoptosis and caspase activation inhibitor
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:99,299,009...99,431,635
Ensembl chr 3:99,298,930...99,431,634
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Bltp1
bridge-like lipid transfer protein family member 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 2:119,708,114...119,924,697
Ensembl chr 2:119,708,209...119,924,695
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Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
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Cntnap1
contactin associated protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr10:86,109,850...86,125,612
Ensembl chr10:86,111,643...86,125,611
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Cstpp1
centriolar satellite-associated tubulin polyglutamylase complex regulator 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,247,393...77,416,307
Ensembl chr 3:77,248,375...77,416,274
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Ddb2
damage specific DNA binding protein 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,185,114...77,207,650
Ensembl chr 3:77,185,109...77,207,631
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Dok7
docking protein 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:1483054 PMID:2261499 PMID:9536098 PMID:10222457 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18414213 PMID:18567858 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20603078 PMID:20610155 PMID:21041412 PMID:21520333 PMID:21850686 PMID:22230109 PMID:22661499 PMID:22884442 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24033266 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25557462 PMID:25625551 PMID:25741868 PMID:25849006 PMID:26436962 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28024842 PMID:28492532 PMID:28508085 PMID:28716243 PMID:29054425 PMID:29118959 PMID:29395675 PMID:30266093 PMID:31618753 PMID:31880392 PMID:32331917 PMID:33146414 PMID:33756069 PMID:34027146 PMID:36099689 PMID:36579833 PMID:37273706 More...
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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Dqx1
DEAQ box RNA-dependent ATPase 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 4:115,563,497...115,572,598
Ensembl chr 4:115,563,752...115,572,590
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Dync1h1
dynein cytoplasmic 1 heavy chain 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 6:129,615,208...129,680,888
Ensembl chr 6:129,609,397...129,680,883
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Ears2
glutamyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 1:176,597,986...176,625,848
Ensembl chr 1:176,597,986...176,625,836
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Exosc3
exosome component 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:22544365 PMID:23883322 PMID:24524299 PMID:25741868 PMID:28053271 PMID:28492532 PMID:30025162 PMID:30221345 More...
NCBI chr 5:59,573,849...59,579,065
Ensembl chr 5:59,573,886...59,579,060
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Fbln1
fibulin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:116,310,582...116,390,075
Ensembl chr 7:116,310,582...116,390,075
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25558065
NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Gbe1
1,4-alpha-glucan branching enzyme 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr11:8,734,806...9,000,226
Ensembl chr11:8,734,820...9,000,210
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Gcn1
GCN1 activator of EIF2AK4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr12:40,991,512...41,052,661
Ensembl chr12:40,991,512...41,052,555
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Gfra4
GDNF family receptor alpha 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:118,254,937...118,262,252
Ensembl chr 3:118,255,402...118,258,329
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Gldn
gliomedin
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28726266 PMID:31680123 PMID:32812332
NCBI chr 8:54,679,015...54,723,198
Ensembl chr 8:54,679,119...54,723,196
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Grk4
G protein-coupled receptor kinase 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693
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Hgfac
HGF activator
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278
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Htt
huntingtin
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
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Iqsec3
IQ motif and Sec7 domain ArfGEF 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 4:154,610,933...154,707,310
Ensembl chr 4:154,610,934...154,707,310
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Lgi4
leucine-rich repeat LGI family, member 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 1:86,294,539...86,305,909
Ensembl chr 1:86,295,074...86,304,874
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Lrp4
LDL receptor related protein 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,429,600...77,483,593
Ensembl chr 3:77,429,798...77,483,593
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Madd
MAP-kinase activating death domain
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,114,330...77,157,865
Ensembl chr 3:77,114,314...77,157,701
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Magi3
membrane associated guanylate kinase, WW and PDZ domain containing 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 2:191,514,726...191,717,048
Ensembl chr 2:191,518,506...191,716,735
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Mfsd10
major facilitator superfamily domain containing 10
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377
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Msantd1
Myb/SANT DNA binding domain containing 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183
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Musk
muscle associated receptor tyrosine kinase
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence | ClinVar Annotator: match by term: Pena-Shokeir syndrome type I CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:8653786 PMID:9536098 PMID:15184594 PMID:15496425 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20371544 PMID:23326516 PMID:24122059 PMID:24183479 PMID:25262156 PMID:25537362 PMID:25612909 PMID:25640679 PMID:25695962 PMID:25741868 PMID:25900532 PMID:26467025 PMID:28492532 PMID:28518170 PMID:29663639 PMID:29704306 PMID:29947050 PMID:30429133 PMID:30719842 PMID:31750350 PMID:31920924 PMID:31974414 PMID:32253145 PMID:32453097 PMID:32732226 PMID:35587316 PMID:36308527 PMID:37091828 More...
NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Naga
alpha-N-acetylgalactosaminidase
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:113,846,358...113,855,430
Ensembl chr 7:113,846,374...113,855,315
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Nalcn
sodium leak channel, non-selective
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:27214504 PMID:31680123
NCBI chr15:100,398,583...100,741,243
Ensembl chr15:100,398,615...100,741,001
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16138229 PMID:23656349 PMID:24033266 PMID:25326637 PMID:25741868 PMID:26467025 PMID:27793025 PMID:28492532 PMID:31159747 PMID:31891871 PMID:33471991 More...
NCBI chr10:64,306,027...64,539,112
Ensembl chr10:64,306,301...64,536,658
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Nop14
NOP14 nucleolar protein
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:76,081,313...76,102,454
Ensembl chr14:76,080,793...76,102,453
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Nr1h3
nuclear receptor subfamily 1, group H, member 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,158,808...77,168,907
Ensembl chr 3:77,158,808...77,168,722
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Pacsin3
protein kinase C and casein kinase substrate in neurons 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,227,187...77,235,820
Ensembl chr 3:77,222,710...77,235,811
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Piezo2
piezo-type mechanosensitive ion channel component 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 PMID:27974811 PMID:31680123 PMID:39033378 More...
NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Prg4
proteoglycan 4
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:31680123
NCBI chr13:62,487,257...62,504,657
Ensembl chr13:62,487,257...62,504,119
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Prickle1
prickle planar cell polarity protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113
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Psmc3
proteasome 26S subunit, ATPase 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,031,825...77,037,207
Ensembl chr 3:77,031,825...77,043,358
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-Related Disorders ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: RAPSN-related disorder
ClinVar
PMID:2245297 PMID:9536098 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16770791 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17576681 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:27966543 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266093 PMID:30266223 PMID:31127727 PMID:31216405 PMID:31680123 PMID:31965297 PMID:32070632 PMID:32528171 PMID:33255631 PMID:33502061 PMID:34106991 PMID:34218205 PMID:34565654 PMID:35982159 PMID:35982160 PMID:36307859 PMID:36308527 More...
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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Rgs12
regulator of G-protein signaling 12
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596
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Ror2
receptor tyrosine kinase-like orphan receptor 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1 | ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:20839240 PMID:21911697 PMID:22473935 PMID:23394784 PMID:23919265 PMID:25637381 PMID:25658027 PMID:25735680 PMID:25741868 PMID:26332594 PMID:27452334 PMID:28492532 PMID:28818389 PMID:30652412 PMID:31407473 PMID:31680123 PMID:32978841 PMID:34463354 PMID:35548885 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Ryr3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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Scn4a
sodium voltage-gated channel alpha subunit 4
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545
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Scn5a
sodium voltage-gated channel alpha subunit 5
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:23861362 PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 8:119,220,905...119,318,816
Ensembl chr 8:119,220,905...119,318,769
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Scn8a
sodium voltage-gated channel alpha subunit 8
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292
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Setbp1
SET binding protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:18414213 PMID:20436468 PMID:25028416 PMID:25741868 PMID:28346496 PMID:31680123 PMID:34782754 More...
NCBI chr18:72,190,542...72,551,272
Ensembl chr18:72,191,035...72,552,556
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Sh3bp2
SH3-domain binding protein 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:16794080 PMID:16917026 PMID:18626973 PMID:19261599 PMID:28492532
NCBI chr14:76,176,097...76,213,300
Ensembl chr14:76,176,101...76,213,251
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Slc39a13
solute carrier family 39 member 13
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,039,411...77,047,528
Ensembl chr 3:77,037,565...77,049,226
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Spag16
sperm associated antigen 16
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:71,333,005...72,252,772
Ensembl chr 9:71,332,992...72,252,708
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Spi1
Spi-1 proto-oncogene
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:17686188 PMID:28492532
NCBI chr 3:77,059,744...77,093,730
Ensembl chr 3:77,073,012...77,092,393
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Svep1
sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 5:72,811,200...72,988,185
Ensembl chr 5:72,811,410...72,988,525
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Tmpo
thymopoietin
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 7:25,642,752...25,667,756
Ensembl chr 7:25,586,725...25,667,727
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Txn1
thioredoxin 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 5:72,712,334...72,724,564
Ensembl chr 5:72,711,933...72,724,629
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Txndc8
thioredoxin domain containing 8
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:28492532
NCBI chr 5:72,749,708...72,785,858
Ensembl chr 5:72,749,725...72,785,931
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Unc50
unc-50 inner nuclear membrane RNA binding protein
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 9:39,664,944...39,674,369
Ensembl chr 9:39,664,971...39,672,890
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Vps13d
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Fetal akinesia sequence
ClinVar
PMID:25741868 PMID:28492532 PMID:31680123
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Zeb2
zinc finger E-box binding homeobox 2
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1
ClinVar
PMID:25741868 PMID:31680123
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 2
OMIM ClinVar
PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16199547 PMID:16770791 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:18252226 PMID:19620612 PMID:20157724 PMID:20301347 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:21520333 PMID:22326364 PMID:22678886 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:29478601 PMID:30124556 PMID:30266223 PMID:31127727 PMID:31216405 PMID:31680123 PMID:32070632 PMID:32528171 PMID:33255631 PMID:34106991 PMID:34218205 PMID:34302381 PMID:34565654 PMID:35982159 PMID:35982160 PMID:36307859 More...
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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Dock7
dedicator of cytokinesis 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
ClinVar
PMID:25741868
NCBI chr 5:113,599,371...113,782,871
Ensembl chr 5:113,600,198...113,782,813
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Dok7
docking protein 7
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 3
OMIM ClinVar
PMID:2261499 PMID:9536098 PMID:16199547 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 PMID:17576681 PMID:18161030 PMID:18165682 PMID:18626973 PMID:19261599 PMID:19837590 PMID:20012313 PMID:20458068 PMID:20554332 PMID:20562457 PMID:20610155 PMID:21041412 PMID:21850686 PMID:22230109 PMID:22661499 PMID:23219351 PMID:23657916 PMID:23790237 PMID:24088041 PMID:25033858 PMID:25237101 PMID:25326635 PMID:25326637 PMID:25741868 PMID:25849006 PMID:26467025 PMID:26583494 PMID:26633545 PMID:27391121 PMID:28492532 PMID:28716243 PMID:29054425 PMID:29118959 PMID:30266093 PMID:31618753 PMID:31880392 PMID:33146414 PMID:33756069 PMID:34027146 PMID:37273706 More...
NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386
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Nup88
nucleoporin 88
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4
OMIM ClinVar
PMID:25741868 PMID:30543681
NCBI chr10:55,667,903...55,692,249
Ensembl chr10:55,667,906...55,692,257
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Rabep1
rabaptin, RAB GTPase binding effector protein 1
ISO
ClinVar Annotator: match by term: Fetal akinesia deformation sequence 4
ClinVar
PMID:25741868
NCBI chr10:55,566,156...55,667,595
Ensembl chr10:55,566,185...55,665,973
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Ank3
ankyrin 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr20:18,602,267...19,225,831
Ensembl chr20:18,602,786...19,086,300
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Apoe
apolipoprotein E
ISO
RGD
PMID:15007105
RGD:12904641
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Bpifa1
BPI fold containing family A, member 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15513904
NCBI chr 3:142,627,810...142,633,553
Ensembl chr 3:142,627,810...142,633,552
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C3
complement C3
IEP
protein:increased activity:blood
RGD
PMID:30657461
RGD:408418720
NCBI chr 9:2,087,437...2,114,366
Ensembl chr 9:2,087,437...2,114,429
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C5
complement C5
IEP
protein:increased activity:blood
RGD
PMID:30657461
RGD:408418720
NCBI chr 3:18,270,696...18,361,994
Ensembl chr 3:18,270,696...18,361,994
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Cat
catalase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:26074427
NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
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Crhr1
corticotropin releasing hormone receptor 1
sexual_dimorphism
IEP
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Dio3
iodothyronine deiodinase 3
treatment
IEP
RGD
PMID:23763370
RGD:13432044
NCBI chr 6:129,285,747...129,287,608
Ensembl chr 6:129,285,749...129,286,660
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Dnmt1
DNA methyltransferase 1
IEP
mRNA,protein:increased expression:Pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
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Dnmt3b
DNA methyltransferase 3 beta
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
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Drd2
dopamine receptor D2
IDA IEP
DNA:Hypermethylation:promoter mRNA:decreased expression: pituitary gland (rat)
RGD
PMID:26509893 PMID:28710248
RGD:11344152 , RGD:401960105
NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875
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Ehmt2
euchromatic histone lysine methyltransferase 2
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr20:3,919,623...3,936,751
Ensembl chr20:3,919,624...3,941,547
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Gabrb3
gamma-aminobutyric acid type A receptor subunit beta 3
treatment sexual_dimorphism
IEP ISO
in male mice only; mRNA:increased expression:frontal cortex:
RGD
PMID:23763370 PMID:30312858
RGD:13432044 , RGD:405866345
NCBI chr 1:108,467,047...108,702,522
Ensembl chr 1:108,296,124...108,698,961
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Gabrg2
gamma-aminobutyric acid type A receptor subunit gamma 2
IEP
mRNA:increased expression:posterior hypothalamic region (rat)
RGD
PMID:18514412
RGD:402528884
NCBI chr10:26,374,693...26,463,937
Ensembl chr10:26,374,694...26,464,346
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
treatment
IMP IEP
RGD
PMID:22037411 PMID:23763370
RGD:13210751 , RGD:13432044
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Hdac2
histone deacetylase 2
IEP
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hdac4
histone deacetylase 4
IEP
mRNA,protein:increased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IEP
protein:increased expression:placenta (rat)
RGD
PMID:26342748
RGD:401965481
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Igf1
insulin-like growth factor 1
IEP
mRNA:decreased expression:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
IEP
protein:decreased activity:cerebellum (rat)
RGD
PMID:16909201
RGD:12904886
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Mat2a
methionine adenosyltransferase 2A
IEP
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr 4:104,489,877...104,495,447
Ensembl chr 4:104,488,466...104,495,493
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Mecp2
methyl CpG binding protein 2
treatment
IEP
mRNA:increased expression:pituitary gland (rat)
RGD
PMID:26509893 PMID:23763370
RGD:11344152 , RGD:13432044
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mir326
microRNA 326
IEP
miRNA:increases expression:pituitary gland (rat)
RGD
PMID:28710248
RGD:401960105
NCBI chr 1:153,854,029...153,854,123
Ensembl chr 1:153,854,029...153,854,123
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Mir9
microRNA 9
IEP
miRNA:increased expression:pituitary gland (rat)
RGD
PMID:28710248
RGD:401960105
NCBI chr 9:1,080,274...1,080,383
Ensembl chr 9:1,080,274...1,080,383
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Mtr
5-methyltetrahydrofolate-homocysteine methyltransferase
IEP
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822
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Nos1
nitric oxide synthase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:25511929
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nr3c2
nuclear receptor subfamily 3, group C, member 2
sexual_dimorphism
IEP
associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)
RGD
PMID:29251811
RGD:401965484
NCBI chr19:30,715,634...31,059,885
Ensembl chr19:30,715,648...31,059,885
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Oprk1
opioid receptor, kappa 1
IEP
DNA, mRNA:hypomethylation, increased expression:ventral tegmental area, prefrontal cortex
RGD
PMID:29678771
RGD:401851055
NCBI chr 5:13,860,016...13,877,823
Ensembl chr 5:13,860,021...13,877,823
G
Oprl1
opioid related nociceptin receptor 1
IEP
mRNA:decreased expression:ventral tegmental area
RGD
PMID:29678771
RGD:401851055
NCBI chr 3:168,831,934...168,839,920
Ensembl chr 3:168,834,003...168,839,920
G
Pdyn
prodynorphin
IEP
DNA, mRNA:hypomethylation, altered expression:ventral tegmental area, nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr 3:116,900,990...116,913,334
Ensembl chr 3:116,900,992...116,913,334
G
Per2
period circadian regulator 2
treatment
ISO
RGD
PMID:31329297
RGD:405878078
NCBI chr 9:92,007,289...92,049,551
Ensembl chr 9:92,007,296...92,049,459
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Pnoc
prepronociceptin
IEP
mRNA:increased expression:nucleus accumbens
RGD
PMID:29678771
RGD:401851055
NCBI chr15:39,624,635...39,652,463
Ensembl chr15:39,624,641...39,651,867
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Pomc
proopiomelanocortin
treatment
ISO
RGD
PMID:31329297
RGD:405878078
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Prl
prolactin
IEP
mRNA,protein:increased expression:pituitary gland, blood plasma (rat) mRNA, protein:increased expression:pituitary gland, blood plasma (rat)
RGD
PMID:26509893 PMID:28710248
RGD:11344152 , RGD:401960105
NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
G
Pten
phosphatase and tensin homolog
IEP
Protein:increased expression, increased activity:cerebellum (rat)
RGD
PMID:12700235
RGD:12801493
NCBI chr 1:230,630,443...230,697,070
Ensembl chr 1:230,630,338...230,696,838
G
Rasgrf1
RAS protein-specific guanine nucleotide-releasing factor 1
treatment
IEP
RGD
PMID:23763370
RGD:13432044
NCBI chr 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269
G
Rps6ka1
ribosomal protein S6 kinase A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29109170
NCBI chr 5:146,079,018...146,118,272
Ensembl chr 5:146,079,021...146,118,272
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Setd7
SET domain containing 7, histone lysine methyltransferase
IEP
mRNA:decreased expression:pituitary gland (rat)
RGD
PMID:26509893
RGD:11344152
NCBI chr 2:135,562,683...135,605,468
Ensembl chr 2:135,562,683...135,605,468
G
Slc25a12
solute carrier family 25 member 12
treatment
IEP
RGD
PMID:23763370
RGD:13432044
NCBI chr 3:56,097,166...56,191,841
Ensembl chr 3:56,097,269...56,192,100
G
Slc6a4
solute carrier family 6 member 4
IEP
mRNA:decreased expression:brain (rat)
RGD
PMID:26180184
RGD:11074449
NCBI chr10:61,824,208...61,858,924
Ensembl chr10:61,826,123...61,858,384
G
Tlr4
toll-like receptor 4
ameliorates
ISO
RGD
PMID:30312858
RGD:405866345
NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
G
Ube3a
ubiquitin protein ligase E3A
treatment
IEP
RGD
PMID:23763370
RGD:13432044
NCBI chr 1:110,070,260...110,161,675
Ensembl chr 1:110,070,480...110,157,250
G
Rhoa
ras homolog family member A
IEP
protein:increased activation:neuron, cerebellum
RGD
PMID:17109064
RGD:2298867
NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
G
Chuk
component of inhibitor of nuclear factor kappa B kinase complex
ISO ISS
OMIM:613630 ClinVar Annotator: match by term: Cocoon syndrome
OMIM MouseDO ClinVar
PMID:20961246
NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065
G
Abcb1a
ATP binding cassette subfamily B member 1A
IEP
mRNA:increased expression:placenta
RGD
PMID:16225763
RGD:2306659
NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709
G
Ace
angiotensin I converting enzyme
IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:24847689
RGD:12879387
NCBI chr10:90,910,316...90,930,437
Ensembl chr10:90,910,316...90,931,131
G
Acta2
actin alpha 2, smooth muscle
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
G
Adipoq
adiponectin, C1Q and collagen domain containing
treatment
IEP
RGD
PMID:23533720
RGD:8695947
NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
G
Adipor1
adiponectin receptor 1
treatment
IEP
RGD
PMID:23533720
RGD:8695947
NCBI chr13:45,859,461...45,879,248
Ensembl chr13:45,859,533...45,879,241
G
Adipor2
adiponectin receptor 2
treatment
IEP
RGD
PMID:23533720
RGD:8695947
NCBI chr 4:152,524,604...152,588,848
Ensembl chr 4:152,524,623...152,559,355
G
Agt
angiotensinogen
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA,protein:increased expression:kidney,urine:
CTD RGD
PMID:17537837 PMID:20530295 PMID:26270574
RGD:13432363 , RGD:11538508
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
G
Agtr1a
angiotensin II receptor, type 1a
IEP
RGD
PMID:21303825
RGD:5129179
NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
G
Agtr2
angiotensin II receptor, type 2
IEP
RGD
PMID:21303825
RGD:5129179
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Aldh18a1
aldehyde dehydrogenase 18 family, member A1
ISO
DNA:mutations:cds:c.412C>T(p.R138W), 413G>A(p.R138L)(human)
RGD
PMID:26320891
RGD:13434923
NCBI chr 1:239,375,657...239,407,956
Ensembl chr 1:239,375,669...239,407,890
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Anapc2
anaphase promoting complex subunit 2
ISO
protein:increased expression:serum (human)
RGD
PMID:25724728
RGD:14696679
NCBI chr 3:8,086,434...8,098,182
Ensembl chr 3:8,086,462...8,098,178
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Apoe
apolipoprotein E
IEP
mRNA:increased expression:adrenal gland (rat)
RGD
PMID:19923365
RGD:4891147
NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
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Apoh
apolipoprotein H
ISO
RGD
PMID:24642748
RGD:10054118
NCBI chr10:93,342,435...93,356,334
Ensembl chr10:93,310,977...93,356,329
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Arg1
arginase 1
IEP
RNA:increased expression:thoracic aorta:
RGD
PMID:29741931
RGD:13792602
NCBI chr 1:20,475,878...20,488,422
Ensembl chr 1:20,475,968...20,488,422
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Atp5f1a
ATP synthase F1 subunit alpha
IEP
protein:increased expression:retroperitoneal fat pad (rat)
RGD
PMID:26633942
RGD:13703049
NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
G
Atp5f1b
ATP synthase F1 subunit beta
IEP
protein:decreased expression:liver (rat)
RGD
PMID:26342040
RGD:13782135
NCBI chr 7:515,454...521,858
Ensembl chr 7:515,460...567,273
G
Bax
BCL2 associated X, apoptosis regulator
treatment
IEP
RGD
PMID:22932950
RGD:10054114
NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
G
Bcl2
BCL2, apoptosis regulator
treatment
IEP
RGD
PMID:22932950
RGD:10054114
NCBI chr13:22,689,783...22,853,920
Ensembl chr13:22,684,989...22,853,743 Ensembl chr13:22,684,989...22,853,743
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Bmp4
bone morphogenetic protein 4
IEP
RGD
PMID:22710965
RGD:9068402
NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306
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Cacna1c
calcium voltage-gated channel subunit alpha1 C
IEP
protein:decreased expression:pancreas (rat)
RGD
PMID:20873977
RGD:152985538
NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648
G
Cacna1d
calcium voltage-gated channel subunit alpha1 D
IEP
protein:decreased expression:pancreas (rat)
RGD
PMID:20873977
RGD:152985538
NCBI chr16:5,227,157...5,521,163
Ensembl chr16:5,228,306...5,668,215
G
Cad
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
IEP
RGD
PMID:3973436
RGD:2303532
NCBI chr 6:25,292,133...25,315,078
Ensembl chr 6:25,292,133...25,319,861
G
Casp3
caspase 3
treatment
IEP
RGD
PMID:22932950
RGD:10054114
NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
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Col2a1
collagen type II alpha 1 chain
IEP
mRNA:decreased expression:distal epiphyseal plate of femur (rat)
RGD
PMID:22995397
RGD:8661261
NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546
G
Comt
catechol-O-methyltransferase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:23667712
NCBI chr11:82,568,052...82,587,642
Ensembl chr11:82,568,025...82,587,642
G
Cps1
carbamoyl-phosphate synthase 1
IEP
RGD
PMID:3973436
RGD:2303532
NCBI chr 9:68,614,153...68,737,037
Ensembl chr 9:68,614,153...68,737,033
G
Cth
cystathionine gamma-lyase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 2:246,975,888...247,002,234
Ensembl chr 2:246,975,894...247,002,234
G
Cyp11a1
cytochrome P450, family 11, subfamily a, polypeptide 1
IEP
mRNA:increased expression:adrenal gland, maternal (rat)
RGD
PMID:17881205
RGD:4832477
NCBI chr 8:58,422,807...58,434,342
Ensembl chr 8:58,404,669...58,434,338
G
Cyp11b1
cytochrome P450, family 11, subfamily b, polypeptide 1
IEP
protein:decreased expression:fetus, adrenal gland (rat)
RGD
PMID:19923365
RGD:4891147
NCBI chr 7:106,772,597...106,780,536
Ensembl chr 7:106,718,274...106,779,278
G
Cyp11b2
cytochrome P450, family 11, subfamily b, polypeptide 2
IEP
mRNA:increased expression:fetus, adrenal gland (rat)
RGD
PMID:19923365
RGD:4891147
NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004
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Cyp1a1
cytochrome P450, family 1, subfamily a, polypeptide 1
IEP ISO
mRNA:increased expression:placenta
RGD
PMID:16225763 PMID:17706398 PMID:18442069
RGD:2306659 , RGD:11576317 , RGD:11576311
NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125
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Ddx23
DEAD-box helicase 23
ISO
ClinVar Annotator: match by term: Intrauterine growth retardation
ClinVar
PMID:25741868 PMID:34050707
NCBI chr 7:129,797,620...129,814,909
Ensembl chr 7:129,797,614...129,814,949
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Des
desmin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 9:76,850,979...76,858,695
Ensembl chr 9:76,850,982...76,858,699
G
Dlk1
delta like non-canonical Notch ligand 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27776119
NCBI chr 6:128,410,216...128,417,518
Ensembl chr 6:128,410,316...128,417,522
G
Dnmt1
DNA methyltransferase 1
IEP
mRNA,protein:decreased expression:hippocampus: mRNA:increased expression:adrenal gland: mRNA:decreased expression:kidney:
RGD
PMID:16380407 PMID:24717552 PMID:12869365
RGD:9588242 , RGD:9590296 , RGD:9588619
NCBI chr 8:19,440,611...19,486,659
Ensembl chr 8:19,440,611...19,486,659
G
Dnmt3b
DNA methyltransferase 3 beta
IEP
mRNA:increased expression:adrenal gland:
RGD
PMID:24717552
RGD:9590296
NCBI chr 3:142,130,588...142,169,128
Ensembl chr 3:142,130,592...142,169,124
G
Dusp1
dual specificity phosphatase 1
IEP
RGD
PMID:12487923
RGD:7771581
NCBI chr10:16,680,478...16,683,275
G
Dusp5
dual specificity phosphatase 5
IEP
RGD
PMID:16940436
RGD:2317872
NCBI chr 1:252,538,408...252,555,320
Ensembl chr 1:252,538,449...252,551,818
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Dync2h1
dynein cytoplasmic 2 heavy chain 1
ISO
ClinVar Annotator: match by term: Intrauterine growth restriction
ClinVar
PMID:19442771 PMID:23339108 PMID:23456818 PMID:25741868 PMID:28492532 PMID:29068549 More...
NCBI chr 8:4,189,067...4,412,183
Ensembl chr 8:4,189,257...4,412,183
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Elk1
ETS transcription factor ELK1
ISO
mRNA:decreased expression:placenta
RGD
PMID:20008130
RGD:7488901
NCBI chr X:1,138,826...1,155,713
Ensembl chr X:1,139,756...1,155,713
G
Esrrg
estrogen-related receptor gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35220427
NCBI chr13:99,167,656...99,788,016
Ensembl chr13:99,564,669...99,783,397
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Fas
Fas cell surface death receptor
susceptibility
ISO
associated with Pre-Eclampsia;DNA:SNP:promoter:-670A>G (human) associated with protein:increased expression:serum:
RGD
PMID:15695771 PMID:16169656
RGD:12903973 , RGD:12904025
NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
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Faslg
Fas ligand
severity
ISO
protein:increased expression:amniotic fluid: associated with protein:increased expression:serum:
RGD
PMID:23582102 PMID:16169656
RGD:12903972 , RGD:12904025
NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
treatment
IEP
RGD
PMID:26322574
RGD:405650593
NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036
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Fto
FTO, alpha-ketoglutarate dependent dioxygenase
IEP ISO
mRNA:decreased expression:placenta mRNA:decreased expression:chorionic villus
RGD
PMID:25054679 PMID:25054679
RGD:329955538 , RGD:329955538
NCBI chr19:15,284,898...15,692,142
Ensembl chr19:15,349,696...15,692,083
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G6pc1
glucose-6-phosphatase catalytic subunit 1
IEP
mRNA:increased expression:liver mRNA, protein:decreased expression:liver (rat)
RGD
PMID:15448092 PMID:23744881
RGD:2315963 , RGD:14695550
NCBI chr10:86,307,400...86,318,766
Ensembl chr10:86,257,668...86,333,804
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Gdnf
glial cell derived neurotrophic factor
IEP
mRNA, protein:decreased expression:kidney
RGD
PMID:25986755
RGD:405866360
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Ghrl
ghrelin and obestatin prepropeptide
disease_progression
IEP
RGD
PMID:20637157
RGD:12904883
NCBI chr 4:146,865,712...146,869,621
Ensembl chr 4:146,865,712...146,869,621
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Ghsr
growth hormone secretagogue receptor
disease_progression
IEP
RGD
PMID:20637157
RGD:12904883
NCBI chr 2:110,268,489...110,271,865
Ensembl chr 2:110,268,489...110,271,865
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Glud1
glutamate dehydrogenase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19500843
NCBI chr16:9,640,312...9,673,961
Ensembl chr16:9,640,312...9,673,957
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
IEP
protein:decreased expression:cerebral cortical neuron (rat)
RGD
PMID:20398734
RGD:4107070
NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283
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Grin2a
glutamate ionotropic receptor NMDA type subunit 2A
IEP
protein:decreased expression:cerebral cortical neuron (rat)
RGD
PMID:20398734
RGD:4107070
NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637
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Grin2b
glutamate ionotropic receptor NMDA type subunit 2B
treatment
IEP
RGD
PMID:20423831
RGD:13210763
NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
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Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
DNA:deletion:: (human)
RGD
PMID:22310945 PMID:19147266
RGD:10450795 , RGD:12792219
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Gstt1
glutathione S-transferase theta 1
susceptibility
ISO
DNA:deletion, haplotype:: (human) DNA:deletion:: (human)
RGD
PMID:22310945 PMID:19147266
RGD:10450795 , RGD:12792219
NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
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Hadha
hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha
IEP
mRNA:decreased expression
RGD
PMID:11124150
RGD:1599884
NCBI chr 6:26,187,969...26,227,605
Ensembl chr 6:26,187,956...26,227,869
G
Hdac1
histone deacetylase 1
IDA IEP
mRNA:increased expression:adrenal gland: protein:decreased expression, decreased activity:hippocampus:
RGD
PMID:18464933 PMID:24717552 PMID:16380407
RGD:2311214 , RGD:9590296 , RGD:9588242
NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
G
Hdac2
histone deacetylase 2
IEP
mRNA:increased expression:adrenal gland:
RGD
PMID:24717552
RGD:9590296
NCBI chr20:40,548,244...40,571,609
Ensembl chr20:40,548,250...40,571,609
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO
DNA:altered methylation:prompter:
RGD
PMID:20126273
RGD:12904699
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Hsd11b2
hydroxysteroid 11-beta dehydrogenase 2
IEP
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666
RGD:2308941
NCBI chr19:33,397,656...33,402,899
Ensembl chr19:33,397,656...33,402,899
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Igf1
insulin-like growth factor 1
treatment onset
IEP ISO
mRNA:decreased expression:liver human protein in a rat model protein:decreased expression:placenta labyrinth (rat)
RGD
PMID:19088829 PMID:9284279 PMID:24239160 PMID:15506645
RGD:2306715 , RGD:12910460 , RGD:12904720 , RGD:1600258
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igf1r
insulin-like growth factor 1 receptor
onset
ISO IEP
DNA:point mutation:exon:p.R108Q, p.K115N (human) protein:increased expression:liver, lung (rat) protein:decreased expression:placenta labyrinth (rat) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:14657428 PMID:14657428 PMID:12536576 PMID:24239160
RGD:1624299 , RGD:12904724 , RGD:12904720
NCBI chr 1:121,549,831...121,838,548
Ensembl chr 1:121,550,743...121,831,777
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Igf2
insulin-like growth factor 2
ISO IEP
CTD Direct Evidence: marker/mechanism mRNA:altered expresssion:liver,placenta:
CTD RGD
PMID:12087403 PMID:16040806 PMID:1408464
RGD:14985247
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Igf2r
insulin-like growth factor 2 receptor
IEP
mRNA:increased expresssion:fetus:
RGD
PMID:1408464
RGD:14985247
NCBI chr 1:47,979,109...48,067,501
Ensembl chr 1:47,979,109...48,067,501
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Igfbp3
insulin-like growth factor binding protein 3
treatment
IEP ISO
protein:increased expression:brain protein:increased expression:Amniotic fluid: protein:decreased expression:serum: mRNA:increased expression:placenta: DNA:hypermethylation:promoter:
RGD
PMID:16923367 PMID:19217707 PMID:19591553 PMID:21823995 PMID:21924014 PMID:15506645 More...
RGD:10402581 , RGD:12743599 , RGD:12743590 , RGD:12743585 , RGD:12743583 , RGD:1600258
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Il1a
interleukin 1 alpha
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822
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Irs1
insulin receptor substrate 1
IEP
mRNA,protein:decreased expression:growth plate:
RGD
PMID:22995397
RGD:8661261
NCBI chr 9:83,552,964...83,605,797
Ensembl chr 9:83,548,944...83,606,122
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Irs2
insulin receptor substrate 2
IEP
RGD
PMID:20720385
RGD:7257699
NCBI chr16:78,488,249...78,512,482
Ensembl chr16:78,485,045...78,512,482
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Lep
leptin
IDA
RGD
PMID:21353474
RGD:5128507
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Mdm2
MDM2 proto-oncogene
IEP
mRNA:decreased expression:cerebrum (rat)
RGD
PMID:15563574
RGD:2317395
NCBI chr 7:53,290,660...53,315,205
Ensembl chr 7:53,290,664...53,314,915
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Mecp2
methyl CpG binding protein 2
IEP
mRNA,protein:decreased expression:hippocampus:
RGD
PMID:16380407
RGD:9588242
NCBI chr X:151,781,177...151,844,687
Ensembl chr X:151,789,930...151,844,689
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Mmp2
matrix metallopeptidase 2
ISO
DNA:SNP:promoter:-1306C>T (human) CTD Direct Evidence: marker/mechanism
CTD RGD
PMID:28157488 PMID:17367869
RGD:13204803
NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
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Mthfd1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
susceptibility
ISO
DNA:SNP:cds:1958G>A(human) DNA:SNP: :401A>G(human)
RGD
PMID:22378735 PMID:18771981 PMID:25118499
RGD:12910955 , RGD:12914148 , RGD:12910958
NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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Muc1
mucin 1, cell surface associated
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr 2:174,635,989...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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Muc2
mucin 2, oligomeric mucus/gel-forming
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr 1:196,799,494...196,831,740
Ensembl chr 1:196,799,517...196,831,756
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Muc4
mucin 4, cell surface associated
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr11:68,008,245...68,053,242
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Nfe2l2
NFE2 like bZIP transcription factor 2
treatment
IEP ISO
protein:decreased expression:placenta
RGD
PMID:23910525 PMID:25171874 PMID:25171874
RGD:10412716 , RGD:26884462 , RGD:26884462
NCBI chr 3:60,594,239...60,621,712
Ensembl chr 3:60,594,242...60,621,737
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Nos1
nitric oxide synthase 1
IEP
associated with hyperinsulinemia; protein:decreased expression:placenta
RGD
PMID:19709742
RGD:5132592
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Nos2
nitric oxide synthase 2
IEP
associated with hyperinsulinemia; protein:increased expression:placenta
RGD
PMID:19709742
RGD:5132592
NCBI chr10:63,815,308...63,851,208
Ensembl chr10:63,815,308...63,851,210
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Nos3
nitric oxide synthase 3
IEP ISO
associated with hyperinsulinemia; protein:decreased expression:placenta CTD Direct Evidence: marker/mechanism RNA, protein:increased expression:thoracic aorta:
CTD RGD
PMID:22421449 PMID:23667712 PMID:19709742 PMID:29741931
RGD:5132592 , RGD:13792602
NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
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Nr3c1
nuclear receptor subfamily 3, group C, member 1
IEP IDA
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666 PMID:20388836
RGD:2308941 , RGD:4892120
NCBI chr18:31,271,681...31,393,320
Ensembl chr18:31,271,681...31,393,375
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Orc1
origin recognition complex, subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21358633
NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
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Otc
ornithine transcarbamylase
IEP
mRNA:altered expression:liver (rat)
RGD
PMID:8929856
RGD:4144077
NCBI chr X:12,453,834...12,529,954
Ensembl chr X:12,453,834...12,566,918
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Pck1
phosphoenolpyruvate carboxykinase 1
IEP
mRNA:decreased expression:liver:
RGD
PMID:12538794
RGD:10448276
NCBI chr 3:161,930,256...161,936,205
Ensembl chr 3:161,930,256...161,936,191
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Pdgfa
platelet derived growth factor subunit A
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr12:15,645,549...15,667,056
Ensembl chr12:15,645,541...15,666,497
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Pdgfb
platelet derived growth factor subunit B
ISO
mRNA:increased expression:placenta
RGD
PMID:11005132
RGD:2311066
NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
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Pdx1
pancreatic and duodenal homeobox 1
IEP IDA
mRNA:decreased expression:pancreas (rat) mRNA:decreased expression:pancreatic islet
RGD
PMID:12606515 PMID:18464933
RGD:2311220 , RGD:2311214
NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064
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Pomc
proopiomelanocortin
IEP
mRNA, protein:decreased expression:hypothalamus
RGD
PMID:19390493
RGD:407580521
NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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Pparg
peroxisome proliferator-activated receptor gamma
IEP
mRNA:decreased expression:lung (rat)
RGD
PMID:21425435
RGD:8552971
NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468
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Ppargc1a
PPARG coactivator 1 alpha
IEP
mRNA, protein:increased expression:liver (rat)
RGD
PMID:18433551
RGD:10059649
NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
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Prdx6
peroxiredoxin 6
ISO IEP
protein:decreased expression:placenta
RGD
PMID:25171874 PMID:25171874
RGD:26884462 , RGD:26884462
NCBI chr13:73,528,746...73,539,295
Ensembl chr13:73,528,210...73,539,355
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Ptger3
prostaglandin E receptor 3
IEP
mRNA, protein:increased expression:placenta (rat)
RGD
PMID:15990166
RGD:10043194
NCBI chr 2:246,606,131...246,750,970
Ensembl chr 2:246,606,183...246,684,434
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Ptgs2
prostaglandin-endoperoxide synthase 2
IEP
associated with Placental Insufficiency;mRNA, protein:decreased expression:kidney
RGD
PMID:17272666
RGD:2308941
NCBI chr13:62,163,936...62,172,193
Ensembl chr13:62,163,932...62,172,188
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
treatment
IEP
with postnatal growth restriction
RGD
PMID:19491300
RGD:12743586
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rbp1
retinol binding protein 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:28157488
NCBI chr 8:99,025,218...99,046,740
Ensembl chr 8:99,025,206...99,046,743
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Ren
renin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17537837
NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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Samd9
sterile alpha motif domain containing 9
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:27182967
NCBI chr 4:31,164,639...31,184,278
Ensembl chr 4:31,164,510...31,184,322
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Serpine1
serpin family E member 1
ISO
associated with Pre-Eclampsia;protein:increased expression:plasma,placenta:
RGD
PMID:8018914
RGD:13208595
NCBI chr12:19,601,272...19,611,657
Ensembl chr12:19,601,272...19,611,657
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Sin3a
SIN3 transcription regulator family member A
IDA
RGD
PMID:18464933
RGD:2311214
NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
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Slc2a1
solute carrier family 2 member 1
IEP
protein:increased expression:placenta mRNA, protein:increased expression:liver
RGD
PMID:11738800 PMID:9886959
RGD:730192 , RGD:12879480
NCBI chr 5:132,717,196...132,745,416
Ensembl chr 5:132,717,196...132,745,416
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Slc2a2
solute carrier family 2 member 2
IEP
mRNA, protein:decreased expression:liver
RGD
PMID:9886959
RGD:12879480
NCBI chr 2:111,609,798...111,639,930
Ensembl chr 2:111,611,774...111,639,933
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Slc2a3
solute carrier family 2 member 3
IEP
protein:increased expression:placenta
RGD
PMID:11738800
RGD:730192
NCBI chr 4:155,960,944...156,026,000
Ensembl chr 4:155,960,946...156,025,472
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Slc38a2
solute carrier family 38, member 2
IEP
mRNA, protein:decreased expression:placenta
RGD
PMID:21812961
RGD:9999212
NCBI chr 7:127,851,267...127,863,482
Ensembl chr 7:127,851,267...127,863,436
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Sod1
superoxide dismutase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21893188
NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249
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Srebf1
sterol regulatory element binding transcription factor 1
IEP
RGD
PMID:19017816
RGD:2308805
NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
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Srebf1_v2
sterol regulatory element binding factor 1, variant 2
IEP
RGD
PMID:19017816
RGD:2308805
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Star
steroidogenic acute regulatory protein
IEP
mRNA:increased expression:adrenal gland, maternal (rat)
RGD
PMID:17881205
RGD:4832477
NCBI chr16:66,267,094...66,274,368
Ensembl chr16:66,264,807...66,271,672
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Tff3
trefoil factor 3
IEP
RGD
PMID:19287349
RGD:7349369
NCBI chr20:9,193,259...9,197,969
Ensembl chr20:9,193,262...9,198,054
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Unc13a
unc-13 homolog A
IEP
RGD
PMID:18787382
RGD:5686390
NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872
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Vdr
vitamin D receptor
ISO
mRNA,protein:decreased expression:placenta:
RGD
PMID:25716068
RGD:11058690
NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677
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Xdh
xanthine dehydrogenase
ISO
ClinVar Annotator: match by term: Intrauterine growth restriction
ClinVar
PMID:25741868 PMID:28492532 PMID:30755392
NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Crh
corticotropin releasing hormone
IEP
protein:increased expression:paraventricular nucleus of hypothalamus (rat)
RGD
PMID:19409200
RGD:5491006
NCBI chr 2:102,143,055...102,144,919
Ensembl chr 2:102,143,055...102,144,919
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Crhr1
corticotropin releasing hormone receptor 1
IEP
protein:increased expression:paraventricular nucleus of hypothalamus (rat)
RGD
PMID:19409200
RGD:5491006
NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481
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Crhr2
corticotropin releasing hormone receptor 2
IEP
protein:decreased expression:paraventricular nucleus of hypothalamus (rat)
RGD
PMID:19409200
RGD:5491006
NCBI chr 4:84,222,897...84,265,924
Ensembl chr 4:84,224,002...84,265,904
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Egr1
early growth response 1
IDA
RGD
PMID:23427086
RGD:10395301
NCBI chr18:26,462,967...26,466,766
Ensembl chr18:26,462,981...26,466,766
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Mmp1
matrix metallopeptidase 1
IEP
protein:altered expression:heart (rat)
RGD
PMID:21856922
RGD:7207283
NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
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Mmp13
matrix metallopeptidase 13
IEP
protein:increased expression:heart (rat)
RGD
PMID:21856922
RGD:7207283
NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239
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Nos1
nitric oxide synthase 1
IEP
RGD
PMID:17310378
RGD:1642145
NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945
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Il6
interleukin 6
ISO
associated with Premature Birth;
RGD
PMID:24832219
RGD:12801490
NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
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Hnf4a
hepatocyte nuclear factor 4, alpha
ISO IEP
DNA:mutations: :
RGD
PMID:17407387 PMID:19435144
RGD:12904698 , RGD:12904767
NCBI chr 3:152,186,787...152,248,320
Ensembl chr 3:152,186,787...152,248,320
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Igf1
insulin-like growth factor 1
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
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Igfbp3
insulin-like growth factor binding protein 3
ISO
protein:increased expression:serum:
RGD
PMID:17113804
RGD:12743591
NCBI chr14:82,056,347...82,064,083
Ensembl chr14:82,056,347...82,064,083
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Lipc
lipase C, hepatic type
IEP
associated with Diabetes Mellitus, Experimental; protein:increased expression:liver (rat)
RGD
PMID:10600655
RGD:2308786
NCBI chr 8:71,509,633...71,635,663
Ensembl chr 8:71,509,635...71,635,464
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Col1a1
collagen type I alpha 1 chain
IEP
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Col1a2
collagen type I alpha 2 chain
IEP
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867
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Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22340208
NCBI chr X:6,032,172...6,098,308
Ensembl chr X:6,030,795...6,099,593
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Nphs1
NPHS1 adhesion molecule, nephrin
IEP
associated with maternal low protein diet; protein:decreased expression:kidney (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 1:85,720,812...85,749,079
Ensembl chr 1:85,720,812...85,749,078
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Nphs2
NPHS2 stomatin family member, podocin
IEP
associated with maternal low protein diet; protein:decreased expression:kidney (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr13:68,448,720...68,461,312
Ensembl chr13:68,448,926...68,461,313
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Zeb2
zinc finger E-box binding homeobox 2
IEP
associated with maternal low protein diet; mRNA:increased expression:glomeruli (rat)
RGD
PMID:23977013
RGD:155882570
NCBI chr 3:29,214,581...29,344,890
Ensembl chr 3:29,218,301...29,345,157
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
ISO ISS
ClinVar Annotator: match by term: GRACILE syndrome OMIM:603358 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:24704045 PMID:25741868 PMID:25895478 PMID:25914718 PMID:25954003 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27618451 PMID:27959697 PMID:28105683 PMID:28128857 PMID:28322498 PMID:28427446 PMID:28490743 PMID:28492532 PMID:28496993 PMID:29090881 PMID:30582773 PMID:30634555 PMID:31435670 PMID:32313153 PMID:32552793 PMID:33511646 PMID:34645488 PMID:34662929 More...
NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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Lbr
lamin B receptor
ISO
ClinVar Annotator: match by term: Autosomal recessive lethal chondrodystrophy with congenital hydrops | ClinVar Annotator: match by term: Greenberg dysplasia DNA:mutations:cds:multiple (human)
OMIM ClinVar RGD
PMID:14684697 PMID:18382993 PMID:20522425 PMID:21327084 PMID:23824842 PMID:24033266 PMID:25348816 PMID:25741868 PMID:26467025 PMID:27336722 PMID:27830109 PMID:27875746 PMID:28492532 PMID:30448303 PMID:30518689 PMID:30561119 PMID:32827848 PMID:34567078 PMID:36307859 PMID:21327084 More...
RGD:9588626
NCBI chr13:93,539,386...93,564,026
Ensembl chr13:93,538,920...93,564,017
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Ermap
erythroblast membrane associated protein (Scianna blood group)
ISO
ClinVar Annotator: match by term: Radin blood group
ClinVar
PMID:12393480
NCBI chr 5:132,788,847...132,803,030
Ensembl chr 5:132,789,991...132,802,847
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Fcgr2a
Fc gamma receptor 2A
ISO
DNA:polymorphism: :
RGD
PMID:19129718
RGD:11100009
NCBI chr13:83,280,782...83,297,535
Ensembl chr13:83,280,784...83,295,967
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Kel
Kell metallo-endopeptidase (Kell blood group)
ISO
ClinVar Annotator: match by term: KELL K/k BLOOD GROUP POLYMORPHISM
ClinVar
PMID:7849312 PMID:8652402 PMID:25741868
NCBI chr 4:70,568,241...70,585,666
Ensembl chr 4:70,568,243...70,585,631
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Slc14a1
solute carrier family 14 member 1 (Kidd blood group)
ISO
ClinVar Annotator: match by term: BLOOD GROUP--KIDD SYSTEM
ClinVar
NCBI chr18:71,565,453...71,608,807
Ensembl chr18:71,565,454...71,595,146
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Slc29a1
solute carrier family 29 member 1
ISO
ClinVar Annotator: match by term: Fetal Erythroblastosis
ClinVar
NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
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Dclre1b
DNA cross-link repair 1B
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:35007328
NCBI chr 2:191,309,909...191,318,399
Ensembl chr 2:191,309,913...191,318,423
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Dkc1
dyskerin pseudouridine synthase 1
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:7607282 PMID:10583221 PMID:12437656 PMID:16332973 PMID:19734544 PMID:20301779 PMID:25741868 PMID:25940403 PMID:26360549 PMID:28492532 PMID:31027506 More...
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Pot1
protection of telomeres 1
ISO
ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
ClinVar
PMID:25741868 PMID:28492532 PMID:29625052 PMID:32155570 PMID:36113475
NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
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Rtel1
regulator of telomere elongation helicase 1
ISO
DNA:nonsense mutation, missense mutation:cds:c.C2920T:p.R974X, c.G1476T:p.M492I (human)
RGD
PMID:23959892
RGD:152977765
NCBI chr 3:168,427,247...168,465,349
Ensembl chr 3:168,419,579...168,465,348
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Tert
telomerase reverse transcriptase
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia
CTD ClinVar
PMID:17785587 PMID:20502709 PMID:25741868 PMID:28492532 PMID:34890115
NCBI chr 1:29,637,213...29,659,561
Ensembl chr 1:29,637,506...29,659,561
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Tinf2
TERF1 interacting nuclear factor 2
ISO
ClinVar Annotator: match by term: Hoyeraal-Hreidarsson syndrome
ClinVar
PMID:25741868 PMID:28492532
NCBI chr15:29,170,663...29,178,015
Ensembl chr15:29,170,652...29,176,984
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Acta1
actin, alpha 1, skeletal muscle
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr19:51,883,709...51,886,735
Ensembl chr19:51,883,715...51,886,742
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Alb
albumin
disease_progression
ISO
RGD
PMID:17195148
RGD:11036098
NCBI chr14:17,607,397...17,622,814
Ensembl chr14:17,607,381...17,622,836
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Anks3
ankyrin repeat and sterile alpha motif domain containing 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:10,614,953...10,635,815
Ensembl chr10:10,615,047...10,635,806
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Arid1a
AT-rich interaction domain 1A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 5:145,908,173...145,981,552
Ensembl chr 5:145,908,181...145,985,564
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C13h1orf105
similar to human chromosome 1 open reading frame 105
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr13:74,313,320...74,356,322
Ensembl chr13:74,313,322...74,356,322
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Ccbe1
collagen and calcium binding EGF domains 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19911200
NCBI chr18:59,579,851...59,823,977
Ensembl chr18:59,580,768...59,824,400
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Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
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Ctsa
cathepsin A
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr 3:153,569,106...153,574,983
Ensembl chr 3:153,568,381...153,576,215
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Dhcr24
24-dehydrocholesterol reductase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 5:121,344,552...121,371,124
Ensembl chr 5:121,344,575...121,371,137
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Dnah14
dynein axonemal heavy chain 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr13:93,322,653...93,540,706
Ensembl chr13:93,322,711...93,538,646
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Dnah9
dynein, axonemal, heavy chain 9
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:30471718 PMID:33027564
NCBI chr10:50,496,174...50,864,909
Ensembl chr10:50,497,688...50,864,949
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Ehbp1l1
EH domain binding protein 1-like 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:202,994,115...203,014,320
Ensembl chr 1:202,994,118...203,014,270
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Fat4
FAT atypical cadherin 4
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532
NCBI chr 2:121,927,266...122,056,700
Ensembl chr 2:121,927,942...122,056,707
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Fen1
flap structure-specific endonuclease 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:206,845,126...206,849,821
Ensembl chr 1:206,844,884...206,850,003
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Foxc2
forkhead box C2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr19:49,186,034...49,188,736
Ensembl chr19:49,185,662...49,188,737
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Foxp3
forkhead box P3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:11137992 PMID:11295725 PMID:16920951 PMID:22590469 PMID:25546394 PMID:25741868 PMID:28492532 PMID:28778586 PMID:28783662 PMID:30293990 PMID:30443250 PMID:31130284 PMID:33637067 More...
NCBI chr X:14,908,494...14,924,994
Ensembl chr X:14,908,494...14,923,838
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Fzd6
frizzled class receptor 6
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr 7:70,055,012...70,086,781
Ensembl chr 7:70,055,068...70,086,776
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Galnt14
polypeptide N-acetylgalactosaminyltransferase 14
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr 6:21,756,039...21,977,533
Ensembl chr 6:21,755,195...21,972,192
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Gusb
glucuronidase, beta
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:1702266 PMID:1779626 PMID:7573038 PMID:7680524 PMID:8644704 PMID:9099834 PMID:19224584 PMID:25741868 PMID:26036949 PMID:28492532 PMID:29620724 PMID:31130284 PMID:31497474 More...
NCBI chr12:26,701,188...26,714,718
Ensembl chr12:26,697,951...26,726,905
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Hba-a3
hemoglobin alpha, adult chain 3
ISO
ClinVar Annotator: match by term: HEMOGLOBIN H HYDROPS FETALIS SYNDROME | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:868864 PMID:8237999 PMID:9029003 PMID:11722414 PMID:17296578 PMID:20412082 PMID:20507641 PMID:20642338 PMID:23822871 PMID:24275569 PMID:24351118 PMID:24829075 PMID:25741868 PMID:26460264 PMID:26467025 PMID:27173219 PMID:27271331 PMID:29749692 PMID:32860378 PMID:33364739 PMID:36900038 More...
NCBI chr10:15,311,637...15,312,481
Ensembl chr10:15,311,634...15,312,481
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Hras
HRas proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20301680 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 1:196,290,127...196,299,823
Ensembl chr 1:196,296,263...196,300,615
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Jak3
Janus kinase 3
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:25741868 PMID:28492532
NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
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Kif19
kinesin family member 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:99,800,185...99,826,546
Ensembl chr10:99,799,400...99,826,546
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Kras
KRAS proto-oncogene, GTPase
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:24549645 PMID:25741868
NCBI chr 4:178,185,418...178,218,484
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Lrrc56
leucine rich repeat containing 56
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:2105486 PMID:12835555 PMID:16170316 PMID:16329078 PMID:16443854 PMID:17384584 PMID:17979197 PMID:18039947 PMID:18042262 PMID:18642361 PMID:19255327 PMID:19773371 PMID:20301680 PMID:20658932 PMID:20937837 PMID:20979192 PMID:21344638 PMID:21438134 PMID:21834037 PMID:21850009 PMID:22190897 PMID:22317973 PMID:22499344 PMID:22683711 PMID:22926243 PMID:23093928 PMID:23096712 PMID:23406027 PMID:23429430 PMID:23487764 PMID:23751039 PMID:23884457 PMID:24006476 PMID:24033266 PMID:24129065 PMID:24224811 PMID:24390138 PMID:25157968 PMID:25741868 PMID:26561417 PMID:26619011 PMID:26916728 PMID:27102959 PMID:27444071 PMID:28371260 PMID:28492532 PMID:30191474 PMID:31222966 PMID:31775759 PMID:33027564 More...
NCBI chr 1:196,299,843...196,315,170
Ensembl chr 1:196,299,846...196,315,172
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Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:25303977 PMID:25741868 PMID:28492532 PMID:32981126 PMID:33258288
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
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Mocs3
molybdenum cofactor synthesis 3
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 3:156,939,763...156,941,723
Ensembl chr 3:156,939,809...156,941,890
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Mybphl
myosin binding protein H-like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 2:196,005,297...196,018,826
Ensembl chr 2:196,005,325...196,018,824
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Myo18a
myosin XVIIIa
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:62,654,218...62,755,465
Ensembl chr10:62,654,281...62,755,468
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Myom1
myomesin 1
ISO
ClinVar Annotator: match by term: MYOM1-related non-immune fetal hydrops | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949 PMID:28492532 PMID:31130284
NCBI chr 9:110,916,156...111,039,344
Ensembl chr 9:110,915,943...111,039,344
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Myrf
myelin regulatory factor
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157
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Neb
nebulin
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:18330676 PMID:25205138 PMID:25741868 PMID:26036949 PMID:26841830 PMID:28492532 More...
NCBI chr 3:36,613,677...36,811,618
Ensembl chr 3:36,613,716...36,811,574
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Neu1
neuraminidase 1
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
NCBI chr20:3,897,480...3,901,745
Ensembl chr20:3,897,480...3,901,745
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Nsd1
nuclear receptor binding SET domain protein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr17:9,311,963...9,426,373
Ensembl chr17:9,315,237...9,425,358
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Piezo1
piezo-type mechanosensitive ion channel component 1
ISO
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Hydrops fetalis | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:28492532 PMID:28619848 PMID:30187933 PMID:30244526 PMID:30655378 PMID:30887001 PMID:31091145 PMID:31624108 PMID:31680349 PMID:32981126 PMID:33027564 More...
NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501
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Pigc
phosphatidylinositol glycan anchor biosynthesis, class C
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949
NCBI chr13:74,343,619...74,346,148
Ensembl chr13:74,296,854...74,346,211
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Prpf19
pre-mRNA processing factor 19
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 1:207,541,582...207,552,664
Ensembl chr 1:207,541,595...207,552,662
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Ptpn11
protein tyrosine phosphatase, non-receptor type 11
ISO
ClinVar Annotator: match by term: Fetal edema
ClinVar
PMID:11704759 PMID:11992261 PMID:12161469 PMID:12634870 PMID:14644997 PMID:14676626 PMID:15240615 PMID:15273746 PMID:15385933 PMID:15710330 PMID:15928039 PMID:15987685 PMID:16358218 PMID:16377799 PMID:16461457 PMID:16533526 PMID:16990350 PMID:17020470 PMID:17339163 PMID:17972951 PMID:18331608 PMID:18378677 PMID:18470943 PMID:18562489 PMID:18678287 PMID:19008228 PMID:19020799 PMID:19047918 PMID:19179468 PMID:19251646 PMID:19835954 PMID:20651068 PMID:21106241 PMID:21365683 PMID:21784453 PMID:21901340 PMID:22371576 PMID:22420426 PMID:22681964 PMID:23321623 PMID:24033266 PMID:24183200 PMID:24628801 PMID:24718990 PMID:25097206 PMID:25383899 PMID:25395418 PMID:25741868 PMID:26084119 PMID:26242988 PMID:26673822 PMID:27030275 PMID:27069254 PMID:27276561 PMID:28492532 PMID:30732632 PMID:30896080 More...
NCBI chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925
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Rapsn
receptor-associated protein of the synapse
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:10449659 PMID:25741868 PMID:31680349
NCBI chr 3:77,015,073...77,024,378
Ensembl chr 3:76,983,471...77,024,373
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Rit1
Ras-like without CAAX 1
ISO
ClinVar Annotator: match by term: Fetal edema | ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:23791108 PMID:24469055 PMID:24939608 PMID:25049390 PMID:25124994 PMID:25741868 PMID:26242988 PMID:26446362 PMID:26714497 PMID:26757980 PMID:27101134 PMID:27699752 PMID:28323383 PMID:28492532 PMID:30266093 PMID:33190430 PMID:33258288 PMID:36274670 More...
NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455
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Rock2
Rho-associated coiled-coil containing protein kinase 2
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 6:39,679,116...39,774,033
Ensembl chr 6:39,679,082...39,774,031
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Ryr1
ryanodine receptor 1
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:17033962 PMID:18414213 PMID:20080402 PMID:21911697 PMID:22473935 PMID:23553787 PMID:23919265 PMID:24033266 PMID:24088041 PMID:24195946 PMID:24951453 PMID:25476234 PMID:25525159 PMID:25637381 PMID:25741868 PMID:25960145 PMID:26332594 PMID:26633545 PMID:27854218 PMID:28492532 PMID:28818389 PMID:30609409 PMID:30611313 PMID:31680349 PMID:33333461 More...
NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812
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Ryr3
ryanodine receptor 3
ISO
ClinVar Annotator: match by term: Hydrops fetalis
ClinVar
PMID:25741868
NCBI chr 3:99,431,755...99,979,125
Ensembl chr 3:99,432,505...99,704,961
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Serpina11
serpin family A member 11
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 6:122,903,246...122,912,695
Ensembl chr 6:122,903,250...122,912,670
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Sftpa1
surfactant protein A1
ISO
protein:decreased expression:lung
RGD
PMID:7590701
RGD:4143453
NCBI chr16:17,008,180...17,011,686
Ensembl chr16:17,008,180...17,011,685
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Shoc2
SHOC2 leucine-rich repeat scaffold protein
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:22670144 PMID:25137548 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30348783 More...
NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337
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Suz12
SUZ12 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868
NCBI chr10:64,967,035...65,012,916
Ensembl chr10:64,966,967...65,012,738
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Svopl
SVOP like
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 4:66,697,550...66,751,699
Ensembl chr 4:66,698,177...66,758,978
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:25741868 PMID:26036949 PMID:28749478
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Ubn1
ubinuclein 1
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
PMID:26036949
NCBI chr10:10,496,576...10,532,010
Ensembl chr10:10,496,576...10,532,010
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Vps13d
vacuolar protein sorting 13 homolog D
ISO
ClinVar Annotator: match by term: Non-immune hydrops fetalis
ClinVar
NCBI chr 5:156,830,509...157,055,895
Ensembl chr 5:156,830,512...157,055,891
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Lars2
leucyl-tRNA synthetase 2, mitochondrial
ISO
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia
OMIM ClinVar
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28000701 PMID:28492532 PMID:28832386 PMID:30737337 PMID:32442335 PMID:32747562 More...
NCBI chr 8:123,010,271...123,106,395
Ensembl chr 8:123,010,293...123,106,395
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Cdkn1c
cyclin-dependent kinase inhibitor 1C
ISO
ClinVar Annotator: match by term: IMAGe syndrome | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:15769992 PMID:17576681 PMID:22634751 PMID:24065356 PMID:24098681 PMID:24313804 PMID:24624461 PMID:25057881 PMID:25262539 PMID:25614875 PMID:25741868 PMID:28492532 PMID:28546232 PMID:30374176 PMID:31630891 PMID:31976094 PMID:33076988 PMID:34098225 More...
NCBI chr 1:198,655,394...198,658,097
Ensembl chr 1:198,655,407...198,658,048
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Pole
DNA polymerase epsilon, catalytic subunit
ISO
ClinVar Annotator: match by term: IMAGEI SYNDROME | ClinVar Annotator: match by term: Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency
ClinVar OMIM
PMID:9536098 PMID:14760276 PMID:16835919 PMID:17576681 PMID:20091185 PMID:21129811 PMID:23230001 PMID:23263490 PMID:23447401 PMID:24033266 PMID:25741868 PMID:25948378 PMID:26467025 PMID:27153395 PMID:28492532 PMID:29056344 PMID:29212164 PMID:29754823 PMID:29987844 PMID:30503519 PMID:35599849 PMID:35860951 More...
NCBI chr12:46,345,420...46,393,984
Ensembl chr12:46,345,420...46,393,939
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Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20194756 PMID:28167773
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Mdfic
MyoD family inhibitor domain containing
ISO
ClinVar Annotator: match by term: Lymphatic malformation 12
OMIM ClinVar
PMID:25741868 PMID:35235341
NCBI chr 4:43,972,310...44,052,162
Ensembl chr 4:43,972,507...44,052,161
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Thsd1
thrombospondin type 1 domain containing 1
ISO
ClinVar Annotator: match by term: Lymphatic malformation 13
OMIM ClinVar
PMID:25741868 PMID:26036949 PMID:28749478 PMID:30055085 PMID:33569873
NCBI chr16:69,771,408...69,804,844
Ensembl chr16:69,771,408...69,801,504
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Calcrl
calcitonin receptor like receptor
ISO
ClinVar Annotator: match by term: Lymphatic malformation 8
OMIM ClinVar
PMID:25741868
NCBI chr 3:69,428,348...69,525,910
Ensembl chr 3:69,430,120...69,525,910
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Agt
angiotensinogen
IEP
mRNA:increased expression:lung
RGD
PMID:14605247
RGD:11039054
NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977
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Agtr2
angiotensin II receptor, type 2
treatment
IMP
RGD
PMID:14605247
RGD:11039054
NCBI chr X:112,119,876...112,124,060
Ensembl chr X:112,120,228...112,124,057
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Atf2
activating transcription factor 2
ISS
MouseDO
NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
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Scgb1a1
secretoglobin family 1A member 1
ISO
protein:increased expression:broncho-alveolar lavage fluid, meconium
RGD
PMID:21567110
RGD:5144123
NCBI chr 1:205,977,060...205,980,610
Ensembl chr 1:205,977,060...205,980,610
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Actg2
actin gamma 2, smooth muscle
ISO
ClinVar Annotator: match by term: Megacystis
ClinVar
PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25741868 PMID:25998219 PMID:26072522 PMID:26647307 PMID:26813947 PMID:27481187 PMID:28422808 PMID:29781137 PMID:31769566 PMID:32814715 PMID:33294969 More...
NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
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Foxf1
forkhead box F1
ISO
ClinVar Annotator: match by term: Fetal megacystis
ClinVar
PMID:25741868
NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738
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Pcnt
pericentrin
ISO
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism
ClinVar
PMID:18414213 PMID:25741868 PMID:28492532
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
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Clasp1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I | ClinVar Annotator: match by term: Osteodysplastic primordial dwarfism, type 1 | ClinVar Annotator: match by term: Taybi Linder syndrome
ClinVar
PMID:10189087 PMID:12409455 PMID:12605445 PMID:21474760 PMID:21474761 PMID:21977988 PMID:21990275 PMID:22581640 PMID:23794361 PMID:24865609 PMID:25741868 PMID:25741869 PMID:26419500 PMID:26522830 PMID:26641461 PMID:27040866 PMID:28492532 PMID:28623346 PMID:28669401 PMID:29165669 PMID:29263834 PMID:29265708 PMID:29391254 PMID:29620724 PMID:30214071 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32595695 PMID:32628740 PMID:33059947 PMID:37898571 More...
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
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Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: Microcephalic Osteodysplastic Primordial Dwarfism, Type I
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Brachymelic primordial dwarfism
ClinVar
PMID:22958901 PMID:24111713 PMID:25741868 PMID:28492532 PMID:28798025 PMID:34426522 PMID:34542152 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
G
Pcnt
pericentrin
ISO ISS
ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism type II | ClinVar Annotator: match by term: Microcephalic osteodysplastic primordial dwarfism with tooth abnormalities | ClinVar Annotator: match by term: PCNT-related condition OMIM:210720 CTD Direct Evidence: marker/mechanism DNA:frameshift mutations, nonsense mutation:exon:p.E220X (658G>T), 1887del, 3568_3569insT (human) DNA:frameshift mutations, nonsense mutations, splice-site mutations:exon, intron:multiple DNA:mutations: :multiple DNA:deletion, nonsense mutations:exon:p.K3154del (c.9460_9462del), p.E1154X (c.3460G>T), p.P1923X (c.5765C>T) (human)
OMIM ClinVar MouseDO CTD RGD
PMID:9536098 PMID:12210304 PMID:15372530 PMID:16199547 PMID:17576681 PMID:18157127 PMID:18174396 PMID:18414213 PMID:19448849 PMID:19643772 PMID:19839044 PMID:19937158 PMID:21195721 PMID:21270239 PMID:21567919 PMID:22821869 PMID:23033978 PMID:24033266 PMID:24928221 PMID:25326635 PMID:25356970 PMID:25363768 PMID:25741868 PMID:27124789 PMID:27323140 PMID:27900370 PMID:28492532 PMID:30214071 PMID:30922925 PMID:31566912 PMID:32267100 PMID:32818659 PMID:35568357 PMID:18157127 PMID:19643772 PMID:18174396 PMID:21567919 More...
RGD:11537403 , RGD:11537402 , RGD:11537401 , RGD:11537400
NCBI chr20:12,190,597...12,278,723
Ensembl chr20:12,191,648...12,278,710
G
Clasp1
cytoplasmic linker associated protein 1
ISO
ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE | ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III
ClinVar
PMID:10189087 PMID:21474760 PMID:21474761 PMID:21977988 PMID:24865609 PMID:25741868 PMID:26522830 PMID:28492532 PMID:28623346 PMID:29165669 PMID:29265708 PMID:29620724 PMID:30368667 PMID:30455926 PMID:32109076 PMID:32581362 PMID:32628740 PMID:37898571 More...
NCBI chr13:29,493,554...29,715,151
Ensembl chr13:29,493,596...29,715,146
G
Myh11
myosin heavy chain 11
ISO
ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
G
Nde1
nudE neurodevelopment protein 1
ISO
ClinVar Annotator: match by term: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, SICILIAN FAIRY TYPE
ClinVar
PMID:25741868 PMID:28492532
NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
G
Alpg
alkaline phosphatase, germ cell
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
G
Alpi
alkaline phosphatase, intestinal
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
G
Alpp
alkaline phosphatase, placental
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606
G
Chrna1
cholinergic receptor nicotinic alpha 1 subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM ClinVar
PMID:6287911 PMID:7619526 PMID:7863154 PMID:9158151 PMID:9221765 PMID:9536098 PMID:10195214 PMID:14719537 PMID:15907919 PMID:16199547 PMID:17576681 PMID:18252226 PMID:18806275 PMID:22406191 PMID:22728938 PMID:23037934 PMID:24121633 PMID:25348405 PMID:25450229 PMID:25741868 PMID:25741885 PMID:26467025 PMID:27748205 PMID:28492532 PMID:29054425 PMID:30177536 PMID:31680349 PMID:33216040 PMID:36634413 More...
NCBI chr 3:58,454,763...58,469,832
Ensembl chr 3:58,454,744...58,469,840
G
Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM ClinVar
PMID:8872460 PMID:9536098 PMID:11435464 PMID:11782989 PMID:16199547 PMID:16916845 PMID:17576681 PMID:18252226 PMID:18398509 PMID:18414213 PMID:23108489 PMID:25264167 PMID:25741868 PMID:26467025 PMID:26578207 PMID:28024842 PMID:28492532 PMID:28518170 PMID:29382405 PMID:29390429 PMID:29399782 PMID:30467950 PMID:31560172 PMID:32070632 PMID:32360402 PMID:32403337 PMID:32528171 PMID:34791078 More...
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
G
Chrng
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
OMIM ClinVar
PMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:24319099 PMID:25326635 PMID:25411939 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:29054425 PMID:30868735 PMID:31230720 PMID:31680349 PMID:32536119 PMID:32901917 PMID:33060286 PMID:34008892 PMID:34440395 More...
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
G
Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
G
Ecel1
endothelin converting enzyme-like 1
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
G
Prss56
serine protease 56
ISO
ClinVar Annotator: match by term: Lethal multiple pterygium syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
G
Phgdh
phosphoglycerate dehydrogenase
ISO
ClinVar Annotator: match by term: Neu-Laxova syndrome 1 CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:9536098 PMID:11034457 PMID:11055895 PMID:11751922 PMID:14645240 PMID:16199547 PMID:17576681 PMID:19235232 PMID:20196394 PMID:21113737 PMID:22393170 PMID:24836451 PMID:25152457 PMID:25741868 PMID:26467025 PMID:26610677 PMID:26960553 PMID:28135894 PMID:28252636 PMID:28492532 PMID:29018476 PMID:29286531 PMID:29703746 PMID:30214071 PMID:30348640 PMID:30838783 PMID:32404165 PMID:33758422 More...
NCBI chr 2:185,906,962...185,936,054
Ensembl chr 2:185,906,966...185,935,944
G
Psat1
phosphoserine aminotransferase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682
G
Cftr
CF transmembrane conductance regulator
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:1695717 PMID:7683952 PMID:7691345 PMID:9239681 PMID:9725922 PMID:12815607 PMID:16199547 PMID:20059485 PMID:23974870 PMID:25741868 PMID:27240813 PMID:28492532 PMID:29879995 PMID:31036917 PMID:31131953 PMID:32357917 More...
NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
G
Lztr1
leucine zipper like post translational regulator 1
ISO
ClinVar Annotator: match by term: Fetal cystic hygroma
ClinVar
PMID:25741868 PMID:25795793 PMID:28492532 PMID:30368668 PMID:30442762 PMID:30442766 PMID:30481304 PMID:30859559 PMID:31825158 More...
NCBI chr11:83,487,717...83,503,896
Ensembl chr11:83,487,717...83,503,633
G
Sos1
SOS Ras/Rac guanine nucleotide exchange factor 1
ISO
ClinVar Annotator: match by term: Nuchal bleb, familial
ClinVar
PMID:17143285 PMID:17586837 PMID:20186801 PMID:21387466 PMID:22494877 PMID:23487764 PMID:24033266 PMID:24458522 PMID:25741868 PMID:28492532 PMID:29907801 PMID:30325180 PMID:30784236 PMID:31560489 More...
NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107
G
Alpg
alkaline phosphatase, germ cell
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,748,721...87,761,500
Ensembl chr 9:87,753,648...87,757,836
G
Alpi
alkaline phosphatase, intestinal
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,773,411...87,776,877
Ensembl chr 9:87,773,411...87,776,877
G
Alpp
alkaline phosphatase, placental
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,765,846...87,768,606
Ensembl chr 9:87,765,860...87,768,606
G
Armc9
armadillo repeat containing 9
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,802,791...86,928,611
Ensembl chr 9:86,802,868...86,928,860
G
Atg16l1
autophagy related 16-like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,420,737...88,457,530
Ensembl chr 9:88,422,038...88,457,529
G
B3gnt7
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,956,220...86,960,171
Ensembl chr 9:86,956,220...86,960,170
G
C9h2orf72
similar to human chromosome 2 open reading frame 72
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,691,767...86,699,920
Ensembl chr 9:86,691,867...86,698,185
G
Cab39
calcium binding protein 39
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,463,095...86,524,545
Ensembl chr 9:86,463,095...86,524,544
G
Chrnd
cholinergic receptor nicotinic delta subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
G
Chrng
cholinergic receptor nicotinic gamma subunit
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,878,085...87,884,193
Ensembl chr 9:87,878,085...87,914,482
G
Cops7b
COP9 signalosome subunit 7B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,238,132...87,263,967
Ensembl chr 9:87,238,375...87,263,967
G
Ctr9
CTR9 homolog, Paf1/RNA polymerase II complex component
ISO
ClinVar Annotator: match by term: Predisposition to Wilms tumor
ClinVar
PMID:25099282 PMID:28492532
NCBI chr 1:165,137,277...165,167,303
Ensembl chr 1:165,137,215...165,167,303
G
Dgkd
diacylglycerol kinase, delta
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,516,686...88,607,349
Ensembl chr 9:88,516,715...88,607,345
G
Dis3
DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:25741868
NCBI chr15:75,820,040...75,850,450
Ensembl chr15:75,823,436...75,850,642
G
Dis3l2
DIS3-like 3'-5' exoribonuclease 2
ISO ISS
ClinVar Annotator: match by term: Perlman syndrome OMIM:267000 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD
PMID:6093533 PMID:9536098 PMID:10508986 PMID:16199547 PMID:16957732 PMID:17576681 PMID:22306653 PMID:23486540 PMID:23576526 PMID:23594738 PMID:23613427 PMID:23756462 PMID:24141620 PMID:25640679 PMID:25670083 PMID:25741868 PMID:25741875 PMID:26689913 PMID:27153395 PMID:27431325 PMID:28328139 PMID:28492532 PMID:29625052 PMID:30344923 PMID:30359267 PMID:31350202 PMID:31942411 PMID:33332384 PMID:33719213 PMID:34130653 PMID:35495172 PMID:36451132 More...
NCBI chr 9:87,355,409...87,736,616
Ensembl chr 9:87,356,457...87,736,616
G
Dnajb3
DnaJ heat shock protein family (Hsp40) member B3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,795,542...88,796,555
Ensembl chr 9:88,795,488...88,796,560
G
Ecel1
endothelin converting enzyme-like 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,819,516...87,829,154
Ensembl chr 9:87,816,718...87,826,675
G
Efhd1
EF-hand domain family, member D1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,938,259...87,984,917
Ensembl chr 9:87,938,284...87,984,917
G
Eif4e2
eukaryotic translation initiation factor 4E family member 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,886,126...87,914,470
Ensembl chr 9:87,878,085...87,914,482
G
Gigyf2
GRB10 interacting GYF protein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,001,212...88,127,040
Ensembl chr 9:88,001,301...88,125,715
G
Gpr55
G protein-coupled receptor 55
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,584,906...86,640,601
Ensembl chr 9:86,590,885...86,640,613
G
Hjurp
Holliday junction recognition protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,853,379...88,867,730
Ensembl chr 9:88,853,386...88,867,728
G
Htr2b
5-hydroxytryptamine receptor 2B
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,735,793...86,756,638
Ensembl chr 9:86,742,102...86,755,108
G
Itm2c
integral membrane protein 2C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,545,927...86,559,745
Ensembl chr 9:86,545,921...86,559,742
G
Kcnj13
potassium inwardly-rectifying channel, subfamily J, member 13
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,063,003...88,071,112
Ensembl chr 9:88,063,003...88,071,112
G
Mroh2a
maestro heat-like repeat family member 2A
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,814,515...88,862,346
Ensembl chr 9:88,814,197...88,852,607
G
Ncl
nucleolin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,999,588...87,008,112
Ensembl chr 9:86,998,019...87,008,136
G
Neu2
neuraminidase 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,218,494...88,267,356
Ensembl chr 9:88,249,135...88,267,355
G
Ngef
neuronal guanine nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,146,956...88,244,454
Ensembl chr 9:88,146,956...88,244,914
G
Nmur1
neuromedin U receptor 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,033,231...87,038,070
Ensembl chr 9:87,033,279...87,036,684
G
Nppc
natriuretic peptide C
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251
G
Pde6d
phosphodiesterase 6D
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,192,989...87,237,979
Ensembl chr 9:87,192,983...87,237,969
G
Prss56
serine protease 56
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978
G
Psmd1
proteasome 26S subunit, non-ATPase 1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,709,714...86,785,213
Ensembl chr 9:86,709,947...86,785,211
G
Ptma
prothymosin alpha
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,176,251...87,180,333
Ensembl chr 9:87,176,230...87,180,333
G
Sag
S-antigen visual arrestin
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,467,797...88,508,821
Ensembl chr 9:88,469,376...88,508,820
G
Snorc
secondary ossification center associated regulator of chondrocyte maturation
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,140,510...88,145,527
Ensembl chr 9:88,140,419...88,145,891
G
Snord20
small nucleolar RNA, C/D box 20
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,001,068...87,001,147
Ensembl chr 9:87,001,068...87,001,147
G
Snord82
small nucleolar RNA, C/D box 82
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,004,515...87,004,586
Ensembl chr 9:87,004,515...87,004,586
G
Sp100
SP100 nuclear antigen
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,310,990...86,377,036
Ensembl chr 9:86,311,032...86,377,034
G
Sp110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
G
Sp140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
G
Spata3
spermatogenesis associated 3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:86,660,352...86,672,272
Ensembl chr 9:86,659,784...86,672,272
G
Spp2
secreted phosphoprotein 2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:89,006,858...89,026,676
Ensembl chr 9:89,007,175...89,026,688
G
Tex44
testis expressed 44
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:87,075,684...87,077,102
Ensembl chr 9:87,075,684...87,077,102
G
Trpm8
transient receptor potential cation channel, subfamily M, member 8
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,897,039...88,990,167
Ensembl chr 9:88,903,880...88,988,552
G
Ugt1a1
UDP glucuronosyltransferase family 1 member A1
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,801,344...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a2
UDP glucuronosyltransferase 1 family, polypeptide A2
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,791,216...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a3
UDP glycosyltransferase 1 family, polypeptide A3
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,780,328...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a5
UDP glucuronosyltransferase family 1 member A5
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,762,250...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a6
UDP glucuronosyltransferase family 1 member A6
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,747,213...88,808,465
Ensembl chr 9:88,713,184...88,808,465
G
Ugt1a9
UDP glucuronosyltransferase family 1 member A9
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,696,981...88,808,465
Ensembl chr 9:88,713,184...88,808,465
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Usp40
ubiquitin specific peptidase 40
ISO
ClinVar Annotator: match by term: Perlman syndrome
ClinVar
PMID:28492532
NCBI chr 9:88,607,920...88,678,940
Ensembl chr 9:88,607,930...88,678,914
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Ptf1a
pancreas associated transcription factor 1a
ISO
ClinVar Annotator: match by term: Diabetes mellitus, permanent neonatal, with cerebellar agenesis | ClinVar Annotator: match by term: PANCREATIC AND CEREBELLAR AGENESIS CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD
PMID:10507728 PMID:15543146 PMID:18591390 PMID:19650412 PMID:20065546 PMID:21749365 PMID:25741868 PMID:25775927 PMID:28492532 More...
NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135
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Cenpj
centromere protein J
ISO
ClinVar Annotator: match by term: CENPJ-related disorder | ClinVar Annotator: match by term: Seckel syndrome 4 DNA:deletion:splice junction:c.3302-1G >C (IVS11-1G>C)(human)
OMIM ClinVar RGD
PMID:15793586 PMID:16900296 PMID:18414213 PMID:20301772 PMID:20522431 PMID:20978018 PMID:24033266 PMID:24402816 PMID:25741868 PMID:26467025 PMID:26752647 PMID:28492532 PMID:20522431 PMID:23166506 More...
RGD:11541118 , RGD:11541114
NCBI chr15:30,627,206...30,690,384
Ensembl chr15:30,627,224...30,686,791
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Rnf17
ring finger protein 17
ISO
ClinVar Annotator: match by term: Seckel syndrome 4
ClinVar
PMID:18414213 PMID:20301772 PMID:20522431 PMID:24402816 PMID:25741868 PMID:26467025 PMID:28492532 More...
NCBI chr15:30,487,899...30,626,024
Ensembl chr15:30,487,883...30,626,024
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Igf2
insulin-like growth factor 2
ISO
ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3
OMIM ClinVar
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 PMID:30400067 More...
NCBI chr 1:197,814,409...197,831,802
Ensembl chr 1:197,814,410...197,823,018
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Ins1
insulin 1
ISO
ClinVar Annotator: match by term: IGF2-related condition | ClinVar Annotator: match by term: Silver-Russell syndrome 3
ClinVar
PMID:25741868 PMID:26154720 PMID:28492532 PMID:28848601 PMID:30152198 PMID:30400067 More...
NCBI chr 1:251,244,973...251,245,540
Ensembl chr 1:251,244,973...251,245,536
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Nelfe
negative elongation factor complex member E
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome
ClinVar
PMID:25741868
NCBI chr20:3,976,512...3,982,389
Ensembl chr20:3,976,518...3,982,355
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Skic2
SKI2 subunit of superkiller complex
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD ClinVar
PMID:16199547 PMID:22444670 PMID:25741868 PMID:27050310 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:33098347 PMID:33249554 PMID:35607352 More...
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
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Skic3
SKI3 subunit of superkiller complex
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: DIARRHEA, FATAL INFANTILE, WITH TRICHORRHEXIS NODOSA | ClinVar Annotator: match by term: Trichohepatoenteric syndrome
CTD ClinVar
PMID:9536098 PMID:17576681 PMID:20176027 PMID:21120949 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28492532 PMID:29527791 PMID:33864888 PMID:34037310 PMID:35108801 PMID:35464432 More...
NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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Agk
acylglycerol kinase
ISO
ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
ClinVar
PMID:22284826 PMID:23266196 PMID:24088041 PMID:25208612 PMID:25326635 PMID:25741868 PMID:26633545 PMID:28492532 PMID:28868593 More...
NCBI chr 4:69,114,850...69,193,989
Ensembl chr 4:69,114,269...69,193,934
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Skic3
SKI3 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: SKIC3-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 1
OMIM ClinVar
PMID:16199547 PMID:20176027 PMID:21120949 PMID:23326254 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27302973 PMID:28292286 PMID:28492532 PMID:28750028 PMID:29527791 PMID:33864888 PMID:34093558 PMID:35108801 PMID:35366317 More...
NCBI chr 2:5,631,544...5,783,643
Ensembl chr 2:5,631,635...5,751,626
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Skic2
SKI2 subunit of superkiller complex
ISO
ClinVar Annotator: match by term: SKIC2-related condition | ClinVar Annotator: match by term: Trichohepatoenteric syndrome 2
OMIM ClinVar
PMID:16199547 PMID:22444670 PMID:24033266 PMID:25326635 PMID:25714577 PMID:25741868 PMID:27050310 PMID:27431780 PMID:28492532 PMID:28496993 PMID:29527791 PMID:31681265 PMID:32313153 PMID:32963807 PMID:33098347 PMID:33114497 PMID:33249554 PMID:34414925 PMID:35607352 More...
NCBI chr20:3,982,494...3,993,261
Ensembl chr20:3,982,593...3,993,261
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome
ClinVar
PMID:16786509 PMID:28492532 PMID:29101475 PMID:30450527
NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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Polr3a
RNA polymerase III subunit A
ISO
ClinVar Annotator: match by term: Neonatal pseudo-hydrocephalic progeroid syndrome | ClinVar Annotator: match by term: POLR3A-related disorders | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch syndrome | ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome
OMIM ClinVar
PMID:614258 PMID:12605447 PMID:16007586 PMID:16199547 PMID:19938095 PMID:20640464 PMID:21855841 PMID:22036171 PMID:22451160 PMID:22855961 PMID:23355746 PMID:23965854 PMID:25339210 PMID:25741868 PMID:25898808 PMID:27029625 PMID:27612211 PMID:28407788 PMID:28447407 PMID:28459997 PMID:28492532 PMID:29691679 PMID:30323018 PMID:30414627 PMID:30450527 PMID:30847471 PMID:31637490 PMID:31855841 PMID:31940116 PMID:32214227 PMID:32373668 PMID:32555393 PMID:32582862 PMID:32597037 PMID:32860008 PMID:33491183 PMID:33972714 PMID:36344503 PMID:36825045 More...
NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172
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Pycr1
pyrroline-5-carboxylate reductase 1
ISO
ClinVar Annotator: match by term: Wiedemann-Rautenstrauch-like progeroid syndrome
ClinVar
PMID:4076251 PMID:16199547 PMID:16233902 PMID:18348262 PMID:19648921 PMID:21834030 PMID:23963297 PMID:24035636 PMID:25741868 PMID:28492532 PMID:30450527 PMID:32860008 More...
NCBI chr10:105,917,732...105,922,658
Ensembl chr10:105,917,680...105,922,549
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Gpkow
G patch domain and KOW motifs
ISO
ClinVar Annotator: match by term: Holoprosencephaly with fetal akinesia/hypokinesia sequence
ClinVar
NCBI chr X:14,791,601...14,806,384
Ensembl chr X:14,791,610...14,806,384
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